Canonical Allele Identifier: CA669981

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21833527C>T , CM000663.2:g.21833527C>T	GRCh38
NC_000001.10:g.22160020C>T , CM000663.1:g.22160020C>T	GRCh37
NC_000001.9:g.22032607C>T	NCBI36
NG_016740.1:g.108731G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.10918G>A MANE Select	ENSP00000363827.3:p.Val3640Ile
ENST00000374695.7:c.10918G>A	ENSP00000363827.3:p.Val3640Ile
ENST00000471322.2:n.1273G>A
ENST00000635682.1:c.51G>A
NM_001291860.1:c.10921G>A	NP_001278789.1:p.Val3641Ile
NM_005529.6:c.10918G>A	NP_005520.4:p.Val3640Ile
XM_006710594.2:c.11464G>A	XP_006710657.1:p.Val3822Ile
XM_006710595.2:c.11416G>A	XP_006710658.1:p.Val3806Ile
XM_006710596.2:c.11395G>A	XP_006710659.1:p.Val3799Ile
XM_006710597.2:c.10918G>A	XP_006710660.1:p.Val3640Ile
XM_011541317.1:c.11467G>A	XP_011539619.1:p.Val3823Ile
XM_011541318.1:c.11467G>A	XP_011539620.1:p.Val3823Ile
XM_011541319.1:c.11467G>A	XP_011539621.1:p.Val3823Ile
XM_011541320.1:c.11188G>A	XP_011539622.1:p.Val3730Ile
XM_011541321.1:c.10972G>A	XP_011539623.1:p.Val3658Ile
XM_011541318.2:c.11467G>A	XP_011539620.1:p.Val3823Ile
XM_017001120.1:c.11113G>A	XP_016856609.1:p.Val3705Ile
XM_017001121.1:c.11062G>A	XP_016856610.1:p.Val3688Ile
XM_017001122.1:c.11059G>A	XP_016856611.1:p.Val3687Ile
NM_005529.7:c.10918G>A MANE Select	NP_005520.4:p.Val3640Ile
NM_001291860.2:c.10921G>A	NP_001278789.1:p.Val3641Ile